Congenital muscular dystrophy

Last reviewed

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ORPHA:97242
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7Active trials36Specialists8Treatment centers

Where are you in your journey?

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

CMDMDC
Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Jun 2026A Study of STX-1150 in Participants With Elevated Low-Density Lipoprotein Cholesterol (LDL-C)

Monash University — PHASE1

TrialNOT YET RECRUITING
Apr 2026Self Expanding Coronary Sinus Reducer for Treatment of Symptomatic Coronary Microvascular Dysfunction (CMD)

VahatiCor, Inc. — NA

TrialNOT YET RECRUITING
Mar 2026Multisensor Wireless Pressure Microcatheter For Microvascular Function Assessment In ANOCA/INOCA Patients: A Prospective, Multicenter, Single-Group Target Value Study

Peking University Third Hospital

TrialNOT YET RECRUITING
Mar 2026Comprehensive Invasive Physiological Evaluation of Obstructive Coronary Artery Disease

UMC Utrecht — NA

TrialNOT YET RECRUITING
Dec 2025CompREhensive Diagnostic Assessment of Coronary Endothelial Function Impairment and Vasospasm With CoNtinuous ThErmodilution in Patients With Suspected Coronary Microvascular and Vasomotor Dysfunction

Mid and South Essex NHS Foundation Trust — NA

TrialNOT YET RECRUITING
Oct 2025A Study Of CS Reducer For Symptomatic Heart Failure With HFpEF And CMD

Mayo Clinic

TrialRECRUITING
Jul 2025Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers

Università Vita-Salute San Raffaele

TrialRECRUITING
Jul 2025A Multi-center, Real-World Clinical Trial of caIMR on Two Specific Kinds of Patients.

Ge Junbo

TrialNOT YET RECRUITING
Jun 2025Study Targeting Myocardial Perfusion and Symptom Relief in Women With SGLT2 Inhibitors (STRONG)

University of Virginia — PHASE1

TrialRECRUITING
Jun 2025Clenbuterol to Target DUX4 in FSHD

Jeffrey Statland — PHASE1

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Congenital muscular dystrophy.

7 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

7 recruitingView all trials with filters →
N/A1 trial
Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
N/A
Active
· Sites: Lille, Hauts-de-France; Nice, Provence-Alpes-Côte d'Azur Region +1 more · Age: 18–75 yrs
View on ClinicalTrials.gov ↗I'm interested →
Other6 trials
Genetics of Cardiovascular and Neuromuscular Disease
Actively Recruiting
PI: Elizabeth McNally, MD PhD (University of Chicago) · Sites: Chicago, Illinois
View on ClinicalTrials.gov ↗I'm interested →
Natural History Study of Children With LAMA2-related Dystrophies
Actively Recruiting
· Sites: Garches; Lyon +2 more · Age: 2–15 yrs
View on ClinicalTrials.gov ↗I'm interested →
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
Actively Recruiting
PI: Anne M Connolly, MD (Nationwide Childrens Hospital) · Sites: Los Angeles, California; Stanford, California +12 more · Age: 0–5 yrs
View on ClinicalTrials.gov ↗I'm interested →
Spanish Natural History Study for LAMA2 Muscular Dystrophy
Actively Recruiting
· Sites: Barcelona, Barcelona · Age: 0–100 yrs
View on ClinicalTrials.gov ↗I'm interested →
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Actively Recruiting
PI: Gustavo Dziewczapolski, PhD (CureCMD, CMDIR) · Sites: Lakewood, California
View on ClinicalTrials.gov ↗I'm interested →
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Actively Recruiting
· Sites: Milan
View on ClinicalTrials.gov ↗I'm interested →

Specialists

Showing 25 of 36View all specialists →
BM
Bernard Brais, MD
Specialist
PI on 2 active trials
TM
Thurman M. Wheeler, MD
ROCHESTER, NY
Specialist
PI on 3 active trials
LM
Laurent Servais, MD
Specialist
PI on 6 active trials1 Congenital muscular dystrophy publication
PP
Pascal LAFORÊT, MD, PhD
Specialist
PI on 1 active trial
SO
Satellos Chief Medical Officer
Los Angeles, California
Specialist

Rare Disease Specialist

PI on 1 active trial1 Congenital muscular dystrophy publication
NM
Nicholas Johnson, MD
Richmond, Virginia
Specialist

Rare Disease Specialist

PI on 5 active trials
KM
Kristen K Buck, MD
Specialist
PI on 3 active trials
JM
Jack J Puymirat, MD
Specialist
PI on 1 active trial
FM
Francesco Bibbiani, MD
Specialist
PI on 4 active trials
SP
Sergey Stavisky, Ph.D.
Specialist
PI on 1 active trial
LP
Laurent Servais, MD, PhD
Liège
Specialist

Rare Disease Specialist

PI on 2 active trials
TP
Tamara Dangouloff, PhD
Specialist
PI on 1 active trial
CM
Charles Thornton, MD
Specialist
PI on 1 active trial
CF
C. Noel Bairey Merz, MD, FACC
Specialist
PI on 3 active trials
JM
Jeffrey Statland, MD
KANSAS CITY, KS
Specialist
PI on 7 active trials
KP
Kristin L Ørstavik, PHD
Specialist
PI on 1 active trial
HP
Hilde S Robinson, PHD
Specialist
PI on 1 active trial
CM
Caroline Hugeron, MD
Specialist
PI on 1 active trial
SM
Seward Rutkove, MD
BOSTON, MA
Specialist
PI on 2 active trials
SS
Sabrina Sacconi
Specialist
PI on 2 active trials12 Congenital muscular dystrophy publications
DP
David S Ditor, PhD
Specialist
PI on 3 active trials
MP
Marielle Contesse, PhD
Specialist
PI on 1 active trial
BP
Baziel van Engelen, MD, PhD
Specialist
PI on 1 active trial
BM
Basil Darras, MD
BOSTON, MA
Specialist
PI on 1 active trial
NM
Nicholas E Johnson, MD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital muscular dystrophy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Congenital muscular dystrophy

Disease timeline:

New recruiting trial: Figure-of-eight Backward Walk Test in Elderly

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Microvascular Coronary Rehabilitation For Improving Treatment - Feasibility Study

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Women's Ischemia Syndrome Evaluation (WISE) Pre-HFpEF

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Imaging Coronary Microvascular Dysfunction (CMD) Study

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Spanish Natural History Study for LAMA2 Muscular Dystrophy

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Friendship Bench for Women Who Use Methamphetamine in Vietnam

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Transdiagnostic Online CBT Vs. Care As Usual for Primary Care Patients with Common Mental Disorders

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Mental Stress Reactivity in Women With CMD

A new clinical trial is recruiting patients for Congenital muscular dystrophy

New recruiting trial: Impact of Exercise Training on Ischemia With Non-Obstructive Coronary Arteries (INOCA): The ExINOCA Study

A new clinical trial is recruiting patients for Congenital muscular dystrophy

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Congenital muscular dystrophy

Are there clinical trials for Congenital muscular dystrophy?

Yes — 7 recruiting clinical trials are currently listed for Congenital muscular dystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Congenital muscular dystrophy?

25 specialists and care centers treating Congenital muscular dystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.