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Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome Hub

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New Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome specialist near you  Β·  Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome community & caregiver support  Β·  CFRD screening reminder  Β· 
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Medical Overview of Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome

Sources cited

A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.

State of Disease · Prevalence / incidence
<1 / 1 000 000 — Point prevalence · Worldwide (Validated)
Source: ORPHANET 8172238 — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.
InheritanceAutosomal recessive
Hallmark SymptomsAbnormality of mitochondrial metabolism, Anemia, Cerebral artery atherosclerosis, Coronaryartery atherosclerosis, Photomyoclonic seizures, Progressive neurologic deterioration, Sensorineural hearing impairment, Short stature
Also known as: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome, Feigenbaum-Bergeron-Richardson syndrome
Classification & codes: GARD 0002279 · Orphanet ORPHA:1192 · OMIM 209010 · ICD-10 I70.9

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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News & Updates

New in Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome research Β· 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
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Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

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Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
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Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome Family Conference

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Featured Education Β· Tomeko Grand Rounds

Care & management overview — Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome

Educational programming; see the cited sources on this hub.

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Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome News & Developments

The latest Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

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Recruiting trials

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Loading recruiting Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome trials…Live from ClinicalTrials.gov

Find a Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome Specialist Near You

Sample results β€” illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.

Treatment & Daily Living

Medical care plus the everyday therapies and supports relevant to Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

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Physical therapyStrength, mobility and function.
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School & workAccommodations, IEP / 504 and workplace support.
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Media Center

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News, podcasts, books & research for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome — real coverage, links out, never re-hosted.

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ResearchNewest papers (PubMed).

Audience Guides

Plain-language guidance for the people around someone with Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
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Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
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School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
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Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

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Biopharma companies with registered trials for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

Companies and research sponsors running trials for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome — drawn from ClinicalTrials.gov (industry-sponsored studies).
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Questions For Your Next Visit

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

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Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Researchers Publishing on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome

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People who publish research on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome, ordered by number of articles — a research-activity signal. This is not a directory of treating clinicians; to find a doctor who treats Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome near you, use the Find a Specialist Near You finder above. Each links to their Tomeko researcher profile.
Sonya Wang
Department of Neurology University of Minnesota Medical School Minneapolis Minne
5 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Yan-Fang Li
Department of Neurology
5 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Fernando Galan
Department of Child and Adolescent Neurology Mayo Clinic College of Medicine and
4 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Lan-Zhen Zhang
Department of Obstetrics
4 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Ya-Ting Chen
Department of Neurology
4 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Jie Wang
Department of Neurology
4 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Chun-Hao Chen
School of Post-Baccalaureate Medicine
4 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Changquan Wang
Department of Functional Neurosurgery
3 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Wenzhe Chen
Department of Functional Neurosurgery
3 articles on Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome · latest 2026
View researcher profile →
Ordered by number of published articles on this condition — a public-data count from PubMed records (NIH/NLM). A signal of research activity, not a Tomeko ranking or endorsement.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome β€” for patients and caregivers alike.

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504 & IEP Accommodations Checklist

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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Grand Rounds & Accredited Education

CFRI 2026 program
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy SyndromeManu Jain, MD
Clinical management — Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy SyndromeKevin Scully, MB BCh BAO
Multidisciplinary care — Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy SyndromeSigrid Barrett, PhD, RN
Panel: Impacts of Aging with Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy SyndromeUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome in the Context of the ExposomeGabriela Oates, PhD
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Certified Centers of Excellence

CFF network

Care centers and specialists for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

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Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome and their families.
HealthWell FoundationCopay and insurance-premium assistance for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

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State of the Disease
2026 report
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Getting Started Pack
PDF guide
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Daily Management Guide
PDF Β· illustrated
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College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
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2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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