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Low Protein Diet in Patients With Collagen VI Related Myopathies (LPD)

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ClinicalTrials.gov Identifier: NCT01438788
Recruitment Status : Completed
First Posted : September 22, 2011
Last Update Posted : October 31, 2016
Information provided by (Responsible Party):
Istituto Ortopedico Rizzoli

September 21, 2011
September 22, 2011
October 31, 2016
October 2011
June 2013   (Final data collection date for primary outcome measure)
Reactivation of autophagy measured as a change in Beclin 1 as a marker of autophagy in muscle biopsy from baseline (Day 1) to Day 365 [ Time Frame: one year ]
Same as current
Complete list of historical versions of study NCT01438788 on ClinicalTrials.gov Archive Site
Assess the safety of a LPD in patients with BM/UCMD . Nutritional parameters . Muscle mass . Muscle strength [ Time Frame: one year ]
Same as current
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Low Protein Diet in Patients With Collagen VI Related Myopathies
Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies
  • This is a 2 stage exploratory study with a 3-month observational phase on the natural course, followed by a 12-month, open-label, non-comparative, single-arm, phase II pilot study on the efficacy, safety and tolerability of a low-protein diet (LPD) in 8 adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
  • Objective of this trial is to test the effect of a normocaloric LPD to reactivate autophagy in BM/UCMD patients. The primary end point of the study will be the change in muscle biopsy of Beclin 1, a marker of autophagy, at 1 year of LPD treatment when compared to baseline.
  • The rationale rests on our discoveries that (i) mitochondrial dysfunction mediated by inappropriate opening of the PTP plays a key role in collagen VI myopathies; (ii) defective autophagy with impaired removal of defective mitochondria amplifies the defect; and (iii) reactivation of autophagy with a low-protein diet or treatment with cyclosporine A, the mitochondrial PTP inhibitor, cured Co6a1-/- mice, hinting at a common target among all beneficial treatments - namely autophagy.
  • Specific aims of this project are to (i) study the modifications of clinical, nutritional and laboratory parameters in a cohort of patients with BM/UCMD during a 3-month observational period before starting the LPD treatment; (ii) assess the effect of a normocaloric LPD in correcting defective autophagy in muscle of patients; (iii) test if new non-invasive biomarkers of activation of autophagy examined in the blood are mirroring the effect of LPD in the muscle biopsy; (iv) assess the clinical efficacy and safety of the LPD with an innovative combination of complementary measures of the nutritional status in patients.
  • The anticipated output is defining and validating a therapeutic nutritional approach in autophagy upregulation for BM/UCMD.
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Phase 2
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
  • Bethlem Myopathy
  • Ullrich Congenital Muscular Dystrophy
Other: Low protein diet
Patients will receive a diet with 0.6-0.8 grams of protein/kilogram body weight/day for one year. Bread, biscuits and pasta will be in part substituted with aproteic food.
Experimental: All patients on a low protein diet
Intervention: Other: Low protein diet

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
September 2013
June 2013   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Males or females aged ≥18 years.
  • Women of childbearing age must have a negative pregnancy test and must use adequate contraception during the study.
  • Clinical and molecular diagnosis of Bethlem myopathy or Ullrich congenital muscular dystrophy.
  • No previous treatment with CsA within 6 months prior to the start of the study.
  • Willing and able to adhere to the study visit schedule and other protocol requirements.
  • Written informed consent signed.

Exclusion Criteria:

  • Current or history of liver or renal disease.
  • Pregnant or breast-feeding women.
  • Any serious internal medicine condition interfering with the study.
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
Contact information is only displayed when the study is recruiting subjects
Not Provided
Not Provided
Istituto Ortopedico Rizzoli
Istituto Ortopedico Rizzoli
Not Provided
Principal Investigator: Luciano Merlini, MD Istituto Ortopedico Rizzoli, Bologna, Italy
Istituto Ortopedico Rizzoli
October 2016

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP