Neuromuscular; Disorder, HereditaryNCT00390104
Molecular Analysis of Patients With Neuromuscular Disease
An observational study of Neuromuscular; Disorder, Hereditary and Duchenne/Becker Muscular Dystrophy, run by Boston Children's Hospital at 1 site in United States.
Trial summary
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. Read more about this study
- Who is it for?
- Ages 1 week to 100 years
- Conditions the study is for
- Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- Jan 2002to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 week to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
Who may be able to join
- having a clinical and/or pathological diagnosis of a muscular dystrophy
- being the first degree relative of someone with such a diagnosis
- having had a muscle biopsy if diagnosed with a neuromuscular disease
- willingness to provide a skin biopsy for research only
Who cannot join
- not having a neuromuscular diagnosis in you or a family member
- not wishing to participate
- being incapable of giving consent and not having a legal guardian willing or able to do so
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Elicia A Estrella, MS, LCGC, 617-919-4552, elicia.estrella@childrens.harvard.edu
Casie Genetti, MS, LCGC, 617-919-2169, Casie.Genetti@childrens.harvard.edu
About this study
Official title: Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
Read the detailed description
We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.
- Conditions
- Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy
- Keywords
- Neuromuscular Disease, Muscle weakness, Muscle atrophy
- Medical subject headings
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Limb-Girdle, Neuromuscular Diseases, Muscle Weakness, Muscular Atrophy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2006 (estimated)
- Study startJan 2002
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Neuromuscular; Disorder, HereditaryStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Louis Kunkel, Boston Children's Hospital
- Investigators
- Louis M Kunkel, PhD, Principal investigator, Boston Children's Hospital/Harvard Medical School
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00390104
- Sponsor's protocol ID
- 03-12-205
- Other IDs
- 5R01NS080929
- Status last verified
- Apr 2023
- First submitted
- 17 Oct 2006
- Last updated
- 24 Apr 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data will be de-identified to protect privacy, but maybe shared with other researchers.
Publications
Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.
PubMed 30345904Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein alpha ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22.
PubMed 28533404Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.
PubMed 27708273
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
- ClinicalTrials.gov ID
- NCT00390104
- Acronym / sponsor ID
- 03-12-205
- Conditions
- Neuromuscular; Disorder, Hereditary, Duchenne/Becker Muscular Dystrophy, Limb-girdle Muscular Dystrophy
- Keywords
- Neuromuscular Disease, Muscle weakness, Muscle atrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- Jan 2002 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 19 Oct 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
Detailed description
We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 1 week to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
Key inclusion criteria (4 listed)
- having a clinical and/or pathological diagnosis of a muscular dystrophy
- being the first degree relative of someone with such a diagnosis
- having had a muscle biopsy if diagnosed with a neuromuscular disease
- willingness to provide a skin biopsy for research only
Key exclusion criteria (3 listed)
- not having a neuromuscular diagnosis in you or a family member
- not wishing to participate
- being incapable of giving consent and not having a legal guardian willing or able to do so
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2023.
- Background: PubMed 30345904Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 Nov 1;50(11):929-939. doi: 10.1152/physiolgenomics.00036.2018. Epub 2018 Aug 31.
- Results publication: PubMed 28533404Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein alpha ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114. Epub 2017 May 22.
- Results publication: PubMed 27708273Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb;62(2):243-252. doi: 10.1038/jhg.2016.116. Epub 2016 Oct 6.
- Individual participant dataSharing planned: Yes. Individual participant data will be de-identified to protect privacy, but maybe shared with other researchers.
Related trials for Neuromuscular; Disorder, Hereditary
Active, not recruitingPhase 1/2
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
RecruitingPhase 3
Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1 (DM1), DM1
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
Friedreich's Ataxia (FA)
Active, not recruitingObservational study
CFTR Modulator Effects on Bone and Muscle in Adults With Cystic Fibrosis
Cystic Fibrosis, Bone Loss
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Louis M Kunkel, PhD principal investigator
Boston Children's Hospital/Harvard Medical School
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuromuscular; Disorder, Hereditary and Duchenne/Becker Muscular Dystrophy, run by Boston Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Elicia A Estrella, MS, LCGC (617-919-4552, elicia.estrella@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00390104, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2023.